(Q36730324)

15 August 2017

1 reference

title

Metabolic pigmentary retinopathies: diagnosis and therapeutic attempts (English)

1 reference

15 August 2017

Metabolic pigmentary retinopathies: Diagnosis and therapeutic attempts (English)

1 reference

pigment epithelium of eye

10 November 2022

main subject

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1728538

10 November 2022

author name string

B. T. Poll-The

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1728538

10 November 2022

T. Billette de Villemeur

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1728538

10 November 2022

M. Abitbol

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1728538

10 November 2022

J. L. Dufier

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1728538

10 November 2022

J. M. Saudubray

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1728538

10 November 2022

language of work or name

1 reference

1 January 1992

1 reference

full work available at URL

15 August 2017

http://link.springer.com/content/pdf/10.1007/BF02073880.pdf

file format

Portable Document Format

1 reference

http://link.springer.com/article/10.1007/BF02073880/fulltext.html

10 November 2022

1 reference

http://link.springer.com/content/pdf/10.1007/BF02073880

10 November 2022

1 reference

European Journal of Pediatrics

10 November 2022

published in

1 reference

15 August 2017

volume

151

1 reference

15 August 2017

issue

1

1 reference

15 August 2017

page(s)

2-11

1 reference

https://scigraph.springernature.com/pub.10.1007/bf02073880

15 August 2017

exact match

0 references

cites work

Raised plasma-ornithine and gyrate atrophy of the choroid and retina.

1 reference

12 December 2020

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

1 reference

12 December 2020

Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6–C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?

1 reference

12 December 2020

Ovine ceroid lipofuscinosis. The major lipopigment protein and the lipid-binding subunit of mitochondrial ATP synthase have the same NH2-terminal sequence

1 reference

12 December 2020

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

1 reference

12 December 2020

A progressive neurologic syndrome in children with chronic liver disease

1 reference

12 December 2020

Mitochondrial oxidation of phytanic acid in human and monkey liver: Implication that Refsum's disease is not a peroxisomal disorder

1 reference

12 December 2020

Vitamin A and vitamin E replacement in abetalipoproteinemia

1 reference

12 December 2020

Patterns of Refsum's disease. Phytanic acid oxidase deficiency

1 reference

12 December 2020

Oligophrenia in combination with congenital ichthyosis and spastic disorders; a clinical and genetic study

1 reference

12 December 2020

Sjögren-Larsson syndrome. Impaired fatty alcohol oxidation in cultured fibroblasts due to deficient fatty alcohol:nicotinamide adenine dinucleotide oxidoreductase activity

1 reference

12 December 2020

Chromosomal localization of human ornithine aminotransferase gene sequences to 10q26 and Xp11.2.

1 reference

12 December 2020

Childhood, juvenile, and adult cerebral lipidoses. Are these different nosological entities?

1 reference

12 December 2020

On the Protein Defect in Abetalipoproteinemia

1 reference

12 December 2020

Deletions of mitochondrial DNA in Kearns-Sayre syndrome

1 reference

12 December 2020

The role of peroxisomes in mammalian cellular metabolism

1 reference

12 December 2020

Axonal dystrophy in the gracile nucleus in congenital biliary atresia and cystic fibrosis (mucoviscidosis): beneficial effect of vitamin E therapy

1 reference

12 December 2020

Infantile type of so-called neuronal ceroid-lipofuscinosis. 1. A clinical study of 15 patients

1 reference

12 December 2020

Computed tomography in Sjögren-Larsson syndrome

1 reference

12 December 2020

Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy.

1 reference

12 December 2020

Molecular cloning of human ornithine aminotransferase mRNA

1 reference

12 December 2020

3-hydroxydecanedioic acid and related homologues: urinary metabolites in ketoacidosis

1 reference

12 December 2020

Batten disease (Spielmeyer-Vogt disease, juvenile onset neuronal ceroid-lipofuscinosis) gene (CLN3) maps to human chromosome 16.

1 reference

12 December 2020

Investigative Ophthalmology Visual Science

1

28

1037

DJ Barrett

1987

1 reference

Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests

10 November 2022

12

1 reference

Acta psychiatrica et neurologica Scandinavica

10 November 2022

24

32

1

T Sjögren

1957

1 reference

10 November 2022

Identifiers

DOI

10.1007/BF02073880

1 reference

15 August 2017

1 reference